| Tag | Content |
|---|---|
| Uniprot ID | Q9W5Z2; Q568C4; Q9W5Z1; |
| Entrez ID | 30164 |
| Genbank protein ID | AAH92922.1; AAD40179.1; AAD40180.1; AAD34390.1; AAF00486.2; AAD34391.1; |
| Genbank nucleotide ID | NM_130975.2; XM_005157307.3; |
| Ensembl protein ID | ENSDARP00000149868; ENSDARP00000120155; ENSDARP00000052568; ENSDARP00000156780; |
| Ensembl nucleotide ID | ENSDARG00000036194 |
| Gene name | Pituitary homeobox 2 |
| Gene symbol | pitx2 |
| Organism | Danio rerio |
| NCBI taxa ID | 7955 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Isoform a and isoform c differentially regulate mesendoderm formation and asymmetric organ development. Both isoforms regulate left-right development, but isoform a has a stronger effect on heart laterality. |
| Sequence | MTSMKDPLSL DHHHHNHHVT GSKHAPLSMA SSLQPLQRSV DSKHRLDVHT VSDTSSPESV 60 EKEKGQSKNE DSNDDPSKKK RQRRQRTHFT SQQLQELEAT FQRNRYPDMS TREEIAVWTN 120 LTEARVRVWF KNRRAKWRKR ERNQQAELCK NGFGPQFNGL MQPYDDMYPS YTYNNWAAKG 180 LTSASLSTKS FPFFNSMNVN PLSSQTMFSP PNSISSMSMS SSMVPSAVTG VPGSSLNSLN 240 NLNNLSNPSL NSGVPTPACP YAPPTPPYVY RDTCNSSLAS LRLKAKQHSS FGYASVQNPA 300 SNLSACQYAV DRPV 314 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | PITX2 | 506721 | A5D7J4 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | PITX2 | 487902 | E2R5R2 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | PITX2 | 102180740 | A0A452E417 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | PITX2 | 5308 | Q99697 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Pitx2 | 18741 | P97474 | CPO | E14.5 | Mus musculus | Publication | More>> |
| 1:1 ortholog | PITX2 | 461438 | K7DFT6 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | PITX2 | A0A287AUF8 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Pitx2 | 54284 | Q9R0W1 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | pitx2 | 30164 | Q9W5Z2 | Danio rerio | Prediction | More>> |
| GO ID | GO Term |
|---|---|
| GO:0005634 | nucleus |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific |
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| GO:0009653 | anatomical structure morphogenesis |
| GO:0043010 | camera-type eye development |
| GO:0048593 | camera-type eye morphogenesis |
| GO:0061386 | closure of optic fissure |
| GO:0061303 | cornea development in camera-type eye |
| GO:0071907 | determination of digestive tract left/right asymmetry |
| GO:0035462 | determination of left/right asymmetry in diencephalon |
| GO:0048596 | embryonic camera-type eye morphogenesis |
| GO:0048701 | embryonic cranial skeleton morphogenesis |
| GO:0060971 | embryonic heart tube left/right pattern formation |
| GO:0048703 | embryonic viscerocranium morphogenesis |
| GO:0021538 | epithalamus development |
| GO:0060325 | face morphogenesis |
| GO:0021986 | habenula development |
| GO:0061072 | iris morphogenesis |
| GO:0048382 | mesendoderm development |
| GO:0042476 | odontogenesis |
| GO:0021501 | prechordal plate formation |
| GO:1904103 | regulation of convergent extension involved in gastrulation |
| GO:0006357 | regulation of transcription by RNA polymerase II |
| GO:0043114 | regulation of vascular permeability |
| GO:0048384 | retinoic acid receptor signaling pathway |